Details of Disease

General Information of Disease (ID: DISCS135)

• Disease Name: Primrose syndrome
• Synonyms: ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes; PRIMS; Primrose syndrome; intellectual disability-cataracts-calcified pinnae-myopathy syndrome
• Definition: A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISCS135: Primrose syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009798
  MESH ID: C536420
  UMLS CUI: C0796121
  OMIM ID: 259050
  MedGen ID: 162911
  Orphanet ID: 3042
  SNOMED CT ID: 726709001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZBTB20	OTHOWHSM	Definitive	Autosomal dominant	[1]

References

• [1] Mutations in ZBTB20 cause Primrose syndrome. Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13.